A Call To Action: Let’s Crowdfund Those Who Can’t Afford CrowdMed

Generally, on CrowdMed, we like to talk about positive things: we like to talk about the cases we’ve solved, the progress we’ve made, and the things we’ve learned along the way.

But there’s another side to our story, and we have officially decided we not only want to go public about it, we want to do something about it.

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What To Do When The Doctor Says “It’s All In Your Head”

A new phenomenon is rising in prominence in the public discussion of health.  Despite the significant improvement in clinical procedures, a small but important part of the population evades an easy diagnosis.  Often referred to as Medically Unexplained Physical Symptoms (MUPS or sometimes MUS), patients who suffer from these clusters of seemingly unrelated complaints stump general practitioners and specialists alike.

On average, U.S. patients with rare undiagnosed or misdiagnosed conditions wait a little over 7 years for a diagnosis.  The longer a patient waits for an answer to their medical mystery, the more uncertain they feel about not only their health, but also their future.  As time goes on and the uncertainty grows, the chronically undiagnosed start to believe that those around them are skeptical that their illness exists.  Eventually even they start to question, “Is it all in my head?”

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POTS: The Most Common Medical Condition You Never Heard Of

Last month the world recognized Rare Disease Day on February 28th.  There are medical conditions that are not rare at all, but still fall into the abysmal cracks in our healthcare system.  Some might call these orphan conditions.  I live with one of these conditions – postural orthostatic tachycardia syndrome (POTS).

POTS is fairly common, but is rarely discussed in medical school, rarely highlighted by the media, and rarely the focus of pharmaceutical industry interest.  POTS patients are rarefied in every way possible… except for the fact that there are over 1 million of us in the US alone.  POTS might be the most common medical condition that no one has ever heard of.

Mayo Clinic researchers estimate that 1 in 100 teens develops POTS.  Including adult onset patients like myself, there are an estimated 1 to 3 million Americans living with POTS.  85% of patients are female, most often between the ages of 12-50.

POTS is one of the most common forms of dysautonomia.  Dysautonomia (pronounced dis-oughta-no’-me-uh) is an umbrella term that includes many different disorders of the autonomic nervous system, which impact over 70 million people worldwide.  The autonomic nervous system originates deep in the brain and extends from the top of your scalp to the bottom of your feet.  It is responsible for regulating involuntary bodily functions including your heart rate, blood pressure, digestion, kidney and bladder function, temperature control, sweating, tear and saliva production, and even your immune system.  There are very few processes that go on in your body that don’t involve your autonomic nervous system in some capacity.

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POTS symptoms can include lightheadedness, a fast heart rate, fainting, fatigue, chest pains, shortness of breath, GI motility problems, nausea, migraines and more.  Most of these symptoms are due to blood pooling in the lower limbs of POTS patients when they stand up, which doesn’t leave enough blood flowing to the heart, lungs and brain.  The symptoms tend to worsen when the patient stands up, and are improved when the patient lies down.

Experts compare the disability seen in POTS to the disability seen in congestive heart failure or chronic obstructive pulmonary disease. Some patients are able to continue with normal daily activities, but 25% of patients are so disabled by POTS that they cannot work or attend school.  Some patients require the use of a wheelchair or become bedridden.

[av_one_half first]Many doctors are not familiar with POTS, or perhaps they have heard of it, but are not quite sure how to diagnose it.  As a result, the average POTS patient takes six years to get diagnosed.  While several studies from major academic research centers show that POTS patients have normal psychological profiles, about 85% of POTS patients are given psychiatric labels prior to being diagnosed with POTS.  The multitude of symptoms caused by their autonomic dysfunction are often dismissed as anxiety or they are told that their symptoms are “all in their head.”[/av_one_half]

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POTS is most often diagnosed using a tilt table test, but when this is not available, some doctors may use do an active stand test, also called a “poor man’s tilt.”  If POTS is suspected, the patient should be referred to a doctor with experience in diagnosing and treating POTS.

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Without a doubt, POTS is not “all in your head.”  While the exact cause of POTS is unknown, researchers have made some progress in understanding the condition.  20% of POTS patients have evidence of cardiac autonomic neuropathy and 50% of POTS patients have sudomotor neuropathy – both parts of the autonomic nervous system.  Researchers at Harvard are currently studying abnormalities in the vasomotor nerves in POTS patients – also part of the autonomic nervous system.  The vast majority of POTS patients have low blood volume, with deficits in both plasma and red blood cells.  Male and female POTS patients are more likely to have iron storage deficiencies than healthy individuals.  A significant percentage of POTS patients also have Ehlers-Danlos Syndrome, an inherited connective tissue disorder.  Perhaps most interestingly, there have been several studies in the past few years that have identified evidence of autoimmunity in POTS patients, including antibodies that target the autonomic nervous system.  Research in this field is ongoing.

While there is no cure at this time, there are treatments that may help manage symptoms.  Non-pharmacological treatments include increased salt and fluid intake, medical compression stockings, recumbent exercises, eating smaller meals throughout the day, and avoiding prolonged standing and hot environments.  Pharmacological treatments commonly used in POTS are aimed at expanding blood volume (fludrocortisone, desmopressin), improving vasoconstriction (midodrine, phenylephrine, octreotide) and reducing tachycardia (beta blockers, ivabradine). Other medications may be used, depending on each patients’ unique presentation.

Another similarity between POTS and rare diseases is a lack of research funding.  Everything we know about POTS has been discovered with less than $1 million a year in National Institutes of Health (NIH) funding.  While $1 million may seem like a lot of money, for comparison, multiple sclerosis impacts 400,000 Americans and receives over $100 million in NIH funding per year.  Parkinson’s disease impacts an estimated 1 million Americans and receives over $135 million in NIH funding per year.  Imagine what scientists could discover about POTS and what new treatments might be developed if the NIH invested 100 times more money in POTS than they currently do?  A girl can dream…

 

Guest author Lauren Stiles is a New York attorney and co-founder of Dysautonomia International, the leading non-profit advocacy organization for individuals living with POTS and other disorders of the autonomic nervous system.  Dysautonomia International funds research, educates medical professionals and empowers patients to be their own best advocates.

If you’re worried about any undiagnosed symptoms you have been having, CrowdMed, with its teams of Medical Detectives can help you find the answers you’re looking for.  Click here to find out more about us.  

Click here to get your case reviewed immediately.

Facts About Lyme Disease: The Misunderstood Condition

Lyme disease can present with a wide range of symptoms, resulting in frequent misdiagnosis. The most common presentation includes fever, fatigue, headache, and a bull-eye rash at the location of infection, but as many as half of infected individuals never report a rash and present with other symptoms.

And, you may be surprised to hear that the most diagnosed illness on CrowdMed is Lyme disease.  The issue of misdiagnosing and not even arriving at a diagnosis at all when someone has Lyme disease is clearly a problem.

EDITOR UPDATE: Several readers pointed out some outdated information referenced in the original overview. There’s nothing worse for patients than trying to fight prevailing “wisdom” in the medical community, which simply isn’t true anymore. We’ve updated this post accordingly. By the way, we’ll also soon be publishing an article by one of our patients, highlighting her personal experience and frustration with Lyme disease. Stay tuned!

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The Vaccination Debate Isn’t About Science: It’s About Trust

As the measles virus makes its way back from the brink of extinction, the public sphere has been flooded by heated arguments for both sides of the vaccination debate.  For what seems to be the majority of Americans, this is a battle between science and irrationality.  Yet amid the media hype and angry rhetoric an interesting theme has emerged in the outbreak’s narrative.  In defending themselves through interviews, discussion forums, and even the mouthpiece of political candidates, many parents claimed that trust was at the heart of their decision not to vaccinate.  How could they trust that the government, the CDC, or even their family doctor know what is best for their child?

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What’s In A Name: Living The Undiagnosed Life

What would you do if you begged for help for years, but no one listened? What would you do if you needed emotional support, but you got only judgment and ridicule instead? What would you do if you if the world forgot about you?

This is the structural violence that undiagnosed patients experience every single day.

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5 People With Rare Diseases Who Will Inspire You

Life with a rare disease can be a lonely experience.  Often, no more than 100 or 50 people in the entire world share the same disease.  There aren’t the same resources available to these people, or an awareness of the difficulties they face.

Which is why so many people with rare diseases inspire us: they overcome almost impossible obstacles to show us just how much can be accomplished despite limitations and a world that doesn’t understand them.

Below are five beautiful stories (among many) of some people with rare diseases who have inspired many with their bravery and vision.

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Infographic: The Plight Of The American Patient

Because we work with a community of patients who are having trouble with the way some of our healthcare is structured in the United States, we tend to run into many patients who have expressed a lot of frustration with America’s healthcare system.

After seeing so many examples, we decided to do some research: were the people who use CrowdMed exceptions to the rule?  Or was there something worse, something more prevalent, happening?

Continue reading Infographic: The Plight Of The American Patient